DMP1 — 303 ClinVar variants
All ClinVar germline DMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →
12 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 14 Conflicting · 25 Benign · 4 Benign/Likely benign · 68 Likely benign · 174 Uncertain significance
Full DMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 158
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DMP1 p.Arg272His
Conflicting
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Gly315Arg
Conflicting
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Thr42Pro
Conflicting
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
Predictors lean, ClinVar uncertain 87
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DMP1 p.Ala344Thr
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Arg310Lys Uncertain significance Multiple submitters
-
DMP1 p.Asn233Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Asn332Lys
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asn498Ser
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp105Asn
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp117Asn
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp405Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Asp453Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Asp478Ala
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Glu385Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Glu398Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Gly181Asp
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Gly207Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Ile501Thr
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Lys270Thr
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Met237Val
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Pro263Ala
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Pro419Ser
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Pro66Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Ser4Thr
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Thr143Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DMP1 p.Ala249Glu Uncertain significance Single submitter
-
DMP1 p.Ala249Gly
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ala249Thr
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ala440Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Arg173Gln Uncertain significance Single submitter
-
DMP1 p.Arg265Ser
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Arg489Gln Uncertain significance Single submitter
-
DMP1 p.Asn286Thr
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Asn467Lys Uncertain significance Single submitter
-
DMP1 p.Asn467Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Asp118Asn Uncertain significance Single submitter
- DMP1 p.Asp125Asn Uncertain significance Single submitter
-
DMP1 p.Asp137Glu
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp156Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Asp212Asn
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp218Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Asp80Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Cys15Trp
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Gln331Glu
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Gln356His Uncertain significance Single submitter
- DMP1 p.Gln82Glu Uncertain significance Single submitter
-
DMP1 p.Glu106Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Glu128Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Glu149Asp Uncertain significance Single submitter
-
DMP1 p.Glu244Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Glu261Lys
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Glu26Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Glu362Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Gly195Arg Uncertain significance Single submitter
-
DMP1 p.Gly315Asp
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Gly53Asp Uncertain significance Single submitter
- DMP1 p.Gly77Ala Uncertain significance Single submitter
-
DMP1 p.Gly89Asp
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Gly96Arg
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Ile144Thr Uncertain significance Single submitter
-
DMP1 p.Ile267Met
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Ile273Phe Uncertain significance Single submitter
-
DMP1 p.Ile3Phe
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ile486Val
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ile501Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Leu168Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Leu260Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Leu392Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Leu87Ile Uncertain significance Single submitter
-
DMP1 p.Lys124Gln
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Lys34Asn
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Lys97Glu
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Met215Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Phe414Val Uncertain significance Single submitter
-
DMP1 p.Phe9Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Pro220Thr
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Pro368Ser Uncertain significance Single submitter
- DMP1 p.Pro370Arg Uncertain significance Single submitter
- DMP1 p.Pro419Leu Uncertain significance Single submitter
-
DMP1 p.Ser109Gly
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ser136Gly
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Ser14Ala Uncertain significance Single submitter
- DMP1 p.Ser264Arg Uncertain significance Single submitter
-
DMP1 p.Thr162Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Thr304Asn
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Thr371Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Thr372Ile
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Thr70Ser Uncertain significance Single submitter
-
DMP1 p.Val375Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Val375Ile Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
-
DMP1 p.Arg173Trp
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Arg302Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Glu445Lys
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Glu470Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Gly512Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Gly512Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.His390Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.His497Leu
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ser183Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Ser225Asn
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ser242Pro
Likely benign
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ser347Leu
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ser475Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DMP1 p.Ser69Cys
Benign
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Tyr513Cys
Uncertain significance
Multiple submitters
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Arg272Cys Uncertain significance Single submitter
-
DMP1 p.Arg489Trp
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Asn345Ile Uncertain significance Single submitter
-
DMP1 p.Asp111Gly
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp117His
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp142Tyr
Conflicting
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp212His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Asp458Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Asp503Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Asp511Asn
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Asp511Glu
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Glu138Lys Uncertain significance Single submitter
-
DMP1 p.Glu31Lys
Conflicting
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Glu328Lys
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Glu329Lys Uncertain significance Single submitter
-
DMP1 p.Glu402Lys
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Glu446Lys Uncertain significance Single submitter
-
DMP1 p.Gly110Arg
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Leu282Phe Uncertain significance Single submitter
-
DMP1 p.Lys270Met
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
-
DMP1 p.Ser157Gly
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Ser176Arg Uncertain significance Single submitter
-
DMP1 p.Ser189Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser271Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser27Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser299Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser326Tyr
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Ser330Gly Uncertain significance Single submitter
- DMP1 p.Ser383Phe Uncertain significance Single submitter
- DMP1 p.Ser384Asn Benign Single submitter
- DMP1 p.Ser395Ala Uncertain significance Single submitter
-
DMP1 p.Ser397Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser411Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser421Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Ser427Thr Uncertain significance Single submitter
-
DMP1 p.Ser429Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Ser429Gly Uncertain significance Single submitter
-
DMP1 p.Ser435Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser437Asn
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Ser438Arg Uncertain significance Single submitter
-
DMP1 p.Ser442Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser447Gly
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Ser466Gly Uncertain significance Single submitter
- DMP1 p.Ser468Phe Uncertain significance Single submitter
-
DMP1 p.Ser468Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser47Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser51Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DMP1 p.Ser57Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DMP1 p.Ser67Asn Uncertain significance Single submitter
- DMP1 p.Ser69Gly Uncertain significance Single submitter
- DMP1 p.Thr161Ile Uncertain significance Single submitter
-
DMP1 p.Thr251Ile
Uncertain significance
Single submitter
hypophosphatemic rickets, autosomal recessive, 1
- DMP1 p.Trp193Cys Uncertain significance Single submitter
All DMP1 variants
Pathogenic 12
- p.Met1Val Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.54+1G>A Single submitter
- c.55-2A>T Single submitter
- p.Asn229fs Single submitter
- p.Gln430Ter Single submitter
- p.Glu149Ter Single submitter
- p.Lys2Ter Single submitter
- p.Met1Lys Single submitter hypophosphatemic rickets
- p.Pro121fs Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Ser92fs Single submitter
- p.Trp33Ter Single submitter
- p.Tyr496fs No assertion criteria hypophosphatemic rickets, autosomal recessive, 1
Pathogenic/Likely pathogenic 2
- c.55-1G>C Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Gly135Ter Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
Likely pathogenic 4
- c.103-1G>A Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.184-1G>A Single submitter
- p.Gln327Ter Single submitter hypophosphatemic rickets
- p.Glu179fs Single submitter
Conflicting classifications of pathogenicity 14
- c.135+1G>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Arg272His Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp104= Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Asp142Tyr Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp369= Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Asp452= Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Glu31Lys Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gly315Arg Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gly53= Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Leu134= Single submitter
- p.Ser293= Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Ser341= Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Thr42Pro Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Val174= Single submitter hypophosphatemic rickets, autosomal recessive, 1
Benign 25
- c.102+256T>C Multiple submitters
- c.102+79A>G Multiple submitters
- c.54+56A>G Multiple submitters
- c.-21-51A>G Multiple submitters
- c.*280C>T Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.*329A>C Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.*35G>A Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.*457T>C Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.*607A>G Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Asn483Thr Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Gln159Lys Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Glu410= Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Ser406= Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Ser69Cys Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- c.183+180T>C Single submitter
- c.184-299dup Single submitter
- c.184-300_184-299dup Single submitter
- c.184-301_184-299dup Single submitter
- c.55-13del Single submitter
- c.-21-205T>C Single submitter
- c.*380C>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*603C>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*905A>G Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Gly99del Single submitter
- p.Ser384Asn Single submitter ⚠
Benign/Likely benign 4
- p.Glu213= Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Gly200= Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Leu282Ile Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Lys463Arg Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
Likely benign 68
- c.103-318A>G Multiple submitters
- p.Asp116= Multiple submitters
- p.Asp511= Multiple submitters
- p.Gln82= Multiple submitters
- p.Glu354= Multiple submitters
- p.Ser242Pro Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser27Pro Multiple submitters
- c.102+13A>G Single submitter
- c.103-11C>T Single submitter
- c.103-17_103-14del Single submitter
- c.135+12del Single submitter
- c.135+15T>C Single submitter
- c.136-19A>C Single submitter
- c.184-12C>T Single submitter
- c.184-13C>T Single submitter
- c.184-4C>A Single submitter
- c.54+10A>C Single submitter
- c.54+17G>A Single submitter
- c.54+18G>A Single submitter
- c.54+19A>T Single submitter
- c.55-13C>T Single submitter
- p.Ala88Val Single submitter
- p.Asn250= Single submitter
- p.Asn332= Single submitter
- p.Asn367= Single submitter
- p.Asp117= Single submitter
- p.Asp141Asn Single submitter
- p.Asp160= Single submitter
- p.Asp206= Single submitter
- p.Asp277= Single submitter
- p.Asp465= Single submitter
- p.Asp478= Single submitter
- p.Asp65= Single submitter
- p.Cys509= Single submitter
- p.Glu106= Single submitter
- p.Glu201= Single submitter
- p.Glu275= Single submitter
- p.Glu402= Single submitter
- p.Glu407= Single submitter
- p.Glu451= Single submitter
- p.Glu46= Single submitter
- p.Glu477= Single submitter
- p.Gly120= Single submitter
- p.Gly236= Single submitter
- p.Gly236Ser Single submitter Inborn genetic diseases
- p.Gly315Ser Single submitter Inborn genetic diseases
- p.His436Gln Single submitter Inborn genetic diseases
- p.Leu306= Single submitter
- p.Leu433= Single submitter
- p.Lys270= Single submitter
- p.Phe9= Single submitter
- p.Pro220= Single submitter
- p.Pro419= Single submitter
- p.Ser203= Single submitter
- p.Ser208= Single submitter
- p.Ser274= Single submitter
- p.Ser389= Single submitter
- p.Ser395= Single submitter
- p.Ser429= Single submitter
- p.Ser444= Single submitter
- p.Ser449= Single submitter
- p.Thr251= Single submitter
- p.Thr469= Single submitter
- p.Tyr496= Single submitter
- p.Val333Ile Single submitter
- p.Val360= Single submitter
- p.Val493= Single submitter
- p.Ala235= No assertion criteria DMP1-related disorder
Uncertain significance 174
- c.55-3T>G Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.*159T>A Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- c.*77T>C Multiple submitters hypophosphatemic rickets, autosomal recessive, 1
- p.Ala344Thr Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Arg173Trp Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Arg302Ile Multiple submitters Inborn genetic diseases ⚠
- p.Arg310Lys Multiple submitters ⚠
- p.Asn233Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn332Lys Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asn498Ser Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp105Asn Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp117Asn Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp405Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp453Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp478Ala Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Glu385Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu398Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu445Lys Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Glu470Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly181Asp Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gly207Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly512Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly512Ser Multiple submitters Inborn genetic diseases ⚠
- p.His390Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His497Leu Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ile501Thr Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Lys270Thr Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Met237Val Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Pro263Ala Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Pro419Ser Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Pro66Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser183Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser225Asn Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser347Leu Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser475Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser4Thr Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Thr143Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr513Cys Multiple submitters hypophosphatemic rickets, autosomal recessive, 1 ⚠
- c.136-3C>G Single submitter
- c.184-7A>G Single submitter
- c.*131T>C Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*27C>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*373T>A Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*438G>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*527G>A Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*602C>A Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*61C>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*695T>A Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*799T>C Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*808G>A Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*850G>A Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*875T>C Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*898G>T Single submitter hypophosphatemic rickets, autosomal recessive, 1
- c.*918T>G Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Ala249Glu Single submitter ⚠
- p.Ala249Gly Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ala249Thr Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ala440Val Single submitter Inborn genetic diseases ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg265Ser Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Arg272Cys Single submitter ⚠
- p.Arg489Gln Single submitter ⚠
- p.Arg489Trp Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asn286Thr Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asn345Ile Single submitter ⚠
- p.Asn467Lys Single submitter ⚠
- p.Asn467Ser Single submitter Inborn genetic diseases ⚠
- p.Asp111Gly Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp117His Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp125Asn Single submitter ⚠
- p.Asp137Glu Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp156Glu Single submitter Inborn genetic diseases ⚠
- p.Asp212Asn Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp212His Single submitter Inborn genetic diseases ⚠
- p.Asp218Asn Single submitter Inborn genetic diseases ⚠
- p.Asp377= Single submitter
- p.Asp458Val Single submitter Inborn genetic diseases ⚠
- p.Asp503Ala Single submitter Inborn genetic diseases ⚠
- p.Asp511Asn Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp511Glu Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Asp80Glu Single submitter Inborn genetic diseases ⚠
- p.Cys15Trp Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gln331Glu Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gln356His Single submitter ⚠
- p.Gln82Glu Single submitter ⚠
- p.Glu106Asp Single submitter Inborn genetic diseases ⚠
- p.Glu128Gly Single submitter Inborn genetic diseases ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu149Asp Single submitter ⚠
- p.Glu241Ter Single submitter
- p.Glu244Asp Single submitter Inborn genetic diseases ⚠
- p.Glu261Lys Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Glu26Gln Single submitter Inborn genetic diseases ⚠
- p.Glu328Lys Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Glu329Lys Single submitter ⚠
- p.Glu362Asp Single submitter Inborn genetic diseases ⚠
- p.Glu402Lys Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Glu423Ter Single submitter
- p.Glu445_Ser454del Single submitter hypophosphatemic rickets, autosomal recessive, 1
- p.Glu446Lys Single submitter ⚠
- p.Gly110Arg Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly315Asp Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gly53Asp Single submitter ⚠
- p.Gly77Ala Single submitter ⚠
- p.Gly89Asp Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Gly96Arg Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ile144Thr Single submitter ⚠
- p.Ile267Met Single submitter Inborn genetic diseases ⚠
- p.Ile273Phe Single submitter ⚠
- p.Ile3Phe Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ile486Val Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ile501fs Single submitter
- p.Ile501Phe Single submitter Inborn genetic diseases ⚠
- p.Leu168Arg Single submitter Inborn genetic diseases ⚠
- p.Leu260Pro Single submitter Inborn genetic diseases ⚠
- p.Leu282Phe Single submitter ⚠
- p.Leu392Phe Single submitter Inborn genetic diseases ⚠
- p.Leu87Ile Single submitter ⚠
- p.Lys124Gln Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Lys270Met Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Lys34Asn Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Lys97Glu Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Met215Ile Single submitter Inborn genetic diseases ⚠
- p.Phe414Val Single submitter ⚠
- p.Phe9Leu Single submitter Inborn genetic diseases ⚠
- p.Pro220Thr Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro370Arg Single submitter ⚠
- p.Pro419Leu Single submitter ⚠
- p.Ser109Gly Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser136Gly Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser14Ala Single submitter ⚠
- p.Ser157Gly Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser176Arg Single submitter ⚠
- p.Ser189Cys Single submitter Inborn genetic diseases ⚠
- p.Ser264Arg Single submitter ⚠
- p.Ser271Phe Single submitter Inborn genetic diseases ⚠
- p.Ser27Phe Single submitter Inborn genetic diseases ⚠
- p.Ser299Arg Single submitter Inborn genetic diseases ⚠
- p.Ser326Tyr Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser330Gly Single submitter ⚠
- p.Ser383Phe Single submitter ⚠
- p.Ser395Ala Single submitter ⚠
- p.Ser397Cys Single submitter Inborn genetic diseases ⚠
- p.Ser411Arg Single submitter Inborn genetic diseases ⚠
- p.Ser421Pro Single submitter Inborn genetic diseases ⚠
- p.Ser427Thr Single submitter ⚠
- p.Ser429Arg Single submitter Inborn genetic diseases ⚠
- p.Ser429Gly Single submitter ⚠
- p.Ser435Cys Single submitter Inborn genetic diseases ⚠
- p.Ser437Asn Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser438Arg Single submitter ⚠
- p.Ser442Asn Single submitter Inborn genetic diseases ⚠
- p.Ser447Gly Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Ser466Gly Single submitter ⚠
- p.Ser468Phe Single submitter ⚠
- p.Ser468Thr Single submitter Inborn genetic diseases ⚠
- p.Ser47Thr Single submitter Inborn genetic diseases ⚠
- p.Ser51Pro Single submitter Inborn genetic diseases ⚠
- p.Ser57Arg Single submitter Inborn genetic diseases ⚠
- p.Ser67Asn Single submitter ⚠
- p.Ser69Gly Single submitter ⚠
- p.Thr161Ile Single submitter ⚠
- p.Thr162Ile Single submitter Inborn genetic diseases ⚠
- p.Thr251Ile Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Thr304Asn Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Thr371Ile Single submitter Inborn genetic diseases ⚠
- p.Thr372Ile Single submitter hypophosphatemic rickets, autosomal recessive, 1 ⚠
- p.Thr70Ser Single submitter ⚠
- p.Trp193Cys Single submitter ⚠
- p.Val375Ala Single submitter Inborn genetic diseases ⚠
- p.Val375Ile Single submitter ⚠